Description
Product Characteristics: FUNCTION: Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations. Mental retardation, autosomal recessive 1 (MRT1). A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. Note: The disease is caused by mutations affecting the gene represented in this entry. Tissue specificity: Brain and Leydig cells of the testis. Subcellular location: Secreted.,Cell Biology,Leydin, Motopsin, Serine protease 12, PRSS12
Target Information: This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a cause of mental retardation autosomal recessive type 1 (MRT1). [provided by RefSeq, Jul 2010]